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      Atypical Fundus Lesions in Juvenile Pseudoxanthoma Elasticum

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          Abstract

          Background: To report two cases with previously undescribed fundus lesions as early ocular signs of pseudoxanthoma elasticum (PXE). Methods: Clinical work-up including color photography and fundus fluorescein angiography (FFA). Results: A 10-year-old girl and an 8-year-old boy (siblings) presented with dermatological exacerbations of PXE. On ophthalmological examination, both patients showed multiple, round, and yellowish white lesions located from the perifoveal area through to the midperipheral retina. FFA revealed hyperfluorescence without leakage during any phase, in accordance with the location of the lesions on the fundus. Conclusion: Atypical fundus lesions in early childhood may be early ocular signs of PXE, in contrast to other well-known manifestations that appear in later decades.

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          Most cited references 6

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          Pseudoxanthoma elasticum.

           C Moss,  S Laube (2005)
          Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable phenotypic variability. The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE largely depends on the extent of extracutaneous organ involvement early recognition, intervention and lifestyle adjustments are important to reduce morbidity. First-degree family members should be carefully examined for any cutaneous or ophthalmologic features of PXE.
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            Spectrum of pattern dystrophy in pseudoxanthoma elasticum.

            To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE). A search of the photographic records at the Vanderbilt Eye Institute using the keywords "angioid streaks and pseudoxanthoma elasticum" yielded 28 names. Of the 23 subjects meeting the patient selection criteria, 22 were confirmed to have a positive diagnosis for PXE after reviewing the medical history information. The diagnosis was confirmed by the constellation of fundus findings in all 22 subjects, by a clinical examination of the skin in 9, and by a skin biopsy specimen in 1. Pattern dystrophy was present in 16 patients (27 eyes) of those with PXE. Fourteen patients (23 eyes) had fundus pulverulentus, 3 patients (5 eyes) had butterfly-shaped dystrophy, and 1 patient (2 eyes) each had fundus flavimaculatus and reticular dystrophy. One eye of one patient developed solitary vitelliform pattern dystrophy during follow-up. Two patients showed progression from one pattern into another during follow-up. Another patient, who at first showed no evidence of pattern dystrophy in either eye, developed fundus pulverulentus in both eyes 5 years later. One patient had simultaneous evidence of 2 types: butterfly and fundus flavimaculatus pattern in each eye. Angioid streaks were seen in each eye of all patients. Peau d'orange was noted in 18 patients, optic nerve drusen in 5, and retinal crystalline bodies in 9. Choroidal neovascular membrane was present in 15 patients. All 5 varieties of pattern dystrophy, 2 of which were not previously associated with PXE, were seen in patients with PXE. Fluorescein angiogram was useful in delineating the type and extent of pattern dystrophy.
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                Author and article information

                Journal
                ORE
                Ophthalmic Res
                10.1159/issn.0030-3747
                Ophthalmic Research
                S. Karger AG
                0030-3747
                1423-0259
                2007
                November 2007
                22 October 2007
                : 39
                : 6
                : 344-347
                Affiliations
                Departments of aOphthalmology and bDermatology, Gaziosmanpasa University School of Medicine, Tokat, and cDepartment of Ophthalmology, Ankara University School of Medicine, Ankara, Turkey
                Article
                109990 Ophthalmic Res 2007;39:344–347
                10.1159/000109990
                17957132
                © 2007 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 4, References: 10, Pages: 4
                Categories
                Short Communication

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